ClinVar

NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)

Gene:

ARSB:arylsulfatase B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

• Chr5: 78964459 (on Assembly GRCh38)
• Chr5: 78260282 (on Assembly GRCh37)

Preferred name:

NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)

HGVS:

• NC_000005.10:g.78964459G>A
• NG_007089.1:g.27076C>T
• NM_000046.5:c.647C>TMANE SELECT
• NM_198709.3:c.647C>T
• NP_000037.2:p.Thr216Ile
• NP_942002.1:p.Thr216Ile
• NC_000005.9:g.78260282G>A
• NM_000046.3:c.647C>T

This HGVS expression did not pass validation

Protein change:

T216I

Links:

dbSNP: rs200364654

NCBI 1000 Genomes Browser:

rs200364654

Molecular consequence:

• NM_000046.5:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198709.3:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]